Food allergy-related disorder linked to master allergy gene

Mar 07, 2010

Scientists have identified a region of a human chromosome that is associated with eosinophilic esophagitis (EoE), a recently recognized allergic disease. People with EoE frequently have difficulty eating or may be allergic to one or more foods. This study further suggests that a suspected so-called master allergy gene may play a role in the development of this rare but debilitating disorder.

EoE is characterized by inflammation and accumulation of a specific type of immune cell, called an eosinophil, in the esophagus. Symptoms of EoE vary with age: In young children a major symptom is spitting up food, while in older children and adults, the condition may cause food to become stuck in the esophagus. These symptoms may improve when a person with EoE is restricted to a liquid formula diet that contains no protein allergens or is placed on a diet that lacks six highly allergenic foods (milk, soy, eggs, wheat, peanut and seafood). EoE is not the same as more common food allergies, which also have serious consequences. Little is known about what causes EoE, but the disease runs in families suggesting that specific genes may be involved.

Investigators led by Marc Rothenberg, M.D., Ph.D., at Cincinnati Children's Medical Center Hospital, and supported by the National Institute of Allergy and Infectious Diseases and the National Institute of Diabetes and Digestive and Kidney Diseases, both part of the National Institutes of Health, performed a genome-wide association analysis in children with EoE and healthy children. This type of study detects markers of across the entire human and allows researchers to zero in on a region of a chromosome to identify genes that influence health and the development of disease.

In this study, the investigators identified changes in genes within a region on chromosome 5 that were highly associated with EoE. One of the genes in this region encodes a protein called thymic stromal lymphopoietin (TSLP). When the investigators measured the expression levels of this gene in children with EoE, they found it was more highly expressed than in without the disorder. This result suggests that TSLP plays some role in EoE.

TSLP is made by epithelial cells, which line internal and external surfaces of the body. It has already been described as a master switch that may turn on other , such as asthma and atopic dermatitis (eczema).

Future research is needed to determine if these findings might lead to a genetic test for TSLP and whether drugs that block the production or function of TSLP might be useful in treating EoE.

Explore further: Scientists find new genes on male sex chromosomes

More information: ME Rothenberg et al. Common variants at 5q22 associate with pediatric eosinophilic esophagitis. Nature Genetics DOI: 10.1038/ng.547 (2010).

Provided by National Institutes of Health

4.7 /5 (3 votes)

Related Stories

Identified: Switch that turns on allergic disease in people

Jan 20, 2010

A new study in human cells has singled out a molecule that specifically directs immune cells to develop the capability to produce an allergic response. The signaling molecule, called thymic stromal lymphopoietin (TSLP), is ...

New risk variant for atopic dermatitis identified

Apr 06, 2009

Scientists of the Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch and Charité - University Medical School, Berlin, Germany, in collaboration with researchers from the Klinikum rechts der Isar of Technical ...

Why does eczema often lead to asthma?

May 19, 2009

Many young children who get a severe skin rash develop asthma months or years later. Doctors call the progression from eczema, or atopic dermatitis, to breathing problems the atopic march. In this week's issue of PLoS Bi ...

When our protective armor shows weakness

Aug 01, 2008

New knowledge points to the fact that a genetically induced lack of filaggrin, a key protein of the skin barrier, plays a decisive role in the origin of allergies. In a large study on more than 3000 school-children scientists ...

Munich researchers discover key allergy gene

Aug 22, 2008

Together with colleagues from the Department of Dermatology and Allergy and the Center for Allergy and Environment of the Technische Universität München, scientists at the Helmholtz Zentrum München have pinpointed a major ...

Recommended for you

Surprising new insights into the PTEN tumor suppressor gene

17 hours ago

Ever since it was first identified more than 15 years ago, the PTEN gene has been known to play an integral role in preventing the onset and progression of numerous cancers. Consequently, when PTEN is either lost or mutated, ...

Scientists find new genes on male sex chromosomes

22 hours ago

Scientists are a step closer to discovering what determines the sex of Australia's iconic platypus and echidna, after an international study involving researchers from the University of Adelaide and UNSW Australia unravelled ...

User comments : 0

More news stories

Google+ boss leaving the company

The executive credited with bringing the Google+ social network to life is leaving the Internet colossus after playing a key role there for nearly eight years.